ERC1
ELKS/Rab6-interacting/CAST family member 1
Also known as: CAST2, ELKS, KIAA1081, MGC12974, RAB6IP2, RB6I2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IUD2
- Gene
- ERC1
- Ensembl
- ENSG00000082805
- Chromosome
- 12
- Canonical length
- 1116 aa
- Protein class
- Cancer-related genes, Disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles,Plasma membrane,Centrosome
OverviewNCBI Gene
The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Canonical amino-acid sequenceUniProt
1116 residues, UniProt reviewed canonical sequence.
>Q8IUD2|ERC1
1 MYGSARSVGK VEPSSQSPGR SPRLPRSPRL GHRRTNSTGG SSGSSVGGGS GKTLSMENIQ
61 SLNAAYATSG PMYLSDHENV GSETPKSTMT LGRSGGRLPY GVRMTAMGSS PNIASSGVAS
121 DTIAFGEHHL PPVSMASTVP HSLRQARDNT IMDLQTQLKE VLRENDLLRK DVEVKESKLS
181 SSMNSIKTFW SPELKKERAL RKDEASKITI WKEQYRVVQE ENQHMQMTIQ ALQDELRIQR
241 DLNQLFQQDS SSRTGEPCVA ELTEENFQRL HAEHERQAKE LFLLRKTLEE MELRIETQKQ
301 TLNARDESIK KLLEMLQSKG LSAKATEEDH ERTRRLAEAE MHVHHLESLL EQKEKENSML
361 REEMHRRFEN APDSAKTKAL QTVIEMKDSK ISSMERGLRD LEEEIQMLKS NGALSTEERE
421 EEMKQMEVYR SHSKFMKNKV EQLKEELSSK EAQWEELKKK AAGLQAEIGQ VKQELSRKDT
481 ELLALQTKLE TLTNQFSDSK QHIEVLKESL TAKEQRAAIL QTEVDALRLR LEEKETMLNK
541 KTKQIQDMAE EKGTQAGEIH DLKDMLDVKE RKVNVLQKKI ENLQEQLRDK EKQMSSLKER
601 VKSLQADTTN TDTALTTLEE ALAEKERTIE RLKEQRDRDE REKQEEIDNY KKDLKDLKEK
661 VSLLQGDLSE KEASLLDLKE HASSLASSGL KKDSRLKTLE IALEQKKEEC LKMESQLKKA
721 HEAALEARAS PEMSDRIQHL EREITRYKDE SSKAQAEVDR LLEILKEVEN EKNDKDKKIA
781 ELERQVKDQN KKVANLKHKE QVEKKKSAQM LEEARRREDN LNDSSQQLQD SLRKKDDRIE
841 ELEEALRESV QITAEREMVL AQEESARTNA EKQVEELLMA MEKVKQELES MKAKLSSTQQ
901 SLAEKETHLT NLRAERRKHL EEVLEMKQEA LLAAISEKDA NIALLELSSS KKKTQEEVAA
961 LKREKDRLVQ QLKQQTQNRM KLMADNYEDD HFKSSHSNQT NHKPSPDQII QPLLELDQNR
1021 SKLKLYIGHL TTLCHDRDPL ILRGLTPPAS YNLDDDQAAW ENELQKMTRG QLQDELEKGE
1081 RDNAELQEFA NAILQQIADH CPDILEQVVN ALEESSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ERC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 18 nTPM
- blood vessel: 15 nTPM
- parathyroid gland: 14 nTPM
- urinary bladder: 13 nTPM
- smooth muscle: 12 nTPM
- heart muscle: 12 nTPM
Single-cell type
- thyrotrophs: 1,728 nCPM
- lactotrophs: 1,228 nCPM
- somatotrophs: 1,113 nCPM
- retinal horizontal cells: 1,074 nCPM
- gonadotrophs: 845 nCPM
- brain excitatory neurons: 803 nCPM
Immune cell
- memory B-cell: 8.9 nTPM
- non-classical monocyte: 5.5 nTPM
- basophil: 3.8 nTPM
- naive B-cell: 3.4 nTPM
- naive CD4 T-cell: 2.4 nTPM
- eosinophil: 2.3 nTPM
Brain region
- cerebellum: 65 nTPM
- hypothalamus: 42 nTPM
- thalamus: 40 nTPM
- hippocampal formation: 38 nTPM
- basal ganglia: 37 nTPM
- midbrain: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ERC1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 178 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.54
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- I-kappaB phosphorylation
- maintenance of presynaptic active zone structure
- positive regulation of NF-kappaB transcription factor activity
- protein transport
- regulation of DNA-templated transcription
- retrograde transport, endosome to Golgi
Molecular functions
- cadherin binding
- PDZ domain binding
- small GTPase binding
- structural constituent of presynaptic active zone
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ERC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ERC1 as an antibody target. Whether an autoantibody or antibody against ERC1 could matter depends on whether native ERC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ERC1 is annotated at the cell surface, where native ERC1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ERC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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